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» New gain-of-function mutation in TPC2 tied to albinism
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Biomarkers
New gain-of-function mutation in TPC2 tied to albinism
Jan. 20, 2023
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Recently, it has been found that loss-of-function of TPC2 alkalized melanosomes promoted pigmentation, while gain-of-function of TPC2 acidified melanosomes and inhibited melanin synthesis.
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Biomarkers
Genetic/congenital